UniProtKB/Swiss-Prot P48509: Variant p.Arg178His

CD151 antigen
Gene: CD151
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Variant information Variant position:

178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Histidine (H) at position 178 (R178H, p.Arg178His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs779114765 [ dbSNP | Ensembl ]

Sequence information Variant position:

178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

253 The length of the canonical sequence.
Location on the sequence:

SNNSQDWRDSEWIRSQEAGG R VVPDSCCKTVVALCGQRDHA The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SNNSQDWRDSEWIRSQEAGGRVVPDSCCKTVVALCGQRDHA

Rhesus macaque                SNNSQDWRDSEWIRLREARGRVVPDSCCKTVVAGCGQRDHA

Mouse                         SNNSQDWQDSEWIRSGEADSRVVPDSCCKTMVAGCGKRDHA

Rat                           SNNSRDWRDSEWIRSGEADSRVVPDSCCKTVVTGCGKREHA

Bovine                        SNNSRDWQDSEWIHSGEAGGRVVPDSCCKTVVPGCGRRDHA

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 253	CD151 antigen
Topological domain	113 – 221	Extracellular
Glycosylation	159 – 159	N-linked (GlcNAc...) asparagine
Mutagenesis	159 – 159	N -> Q. Unable to modulate the glycosylation pattern of integrin ITGA3 subunit.

Literature citations
CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
Karamatic Crew V.; Burton N.; Kagan A.; Green C.A.; Levene C.; Flinter F.; Brady R.L.; Daniels G.; Anstee D.J.;
Blood 104:2217-2223(2004)
Cited for: FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN RAPH BLOOD GROUP SYSTEM; INVOLVEMENT IN EBS7; VARIANT HIS-178;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.